📂 Diseases
osteogenesis imperfecta type 8 — Definition
Osteogenezis İmperfekta Tip 8 / osteogenesis imperfecta type 8
It is a rare genetic disease that shows the transition of autozomal resessive, where bones are excessively fragile. Type 8 is mainly caused by mutations in P3H1 gene, and bone density is significantly reduced due to the disorder in collagen synthesis. A large number of fractures, short size, white sklera and serious bone deformities are seen in patients during childbirth or early babyhood. Unlike other types, opalesans in the teeth (dentogenezis imperfekta) usually does not accompany.
Frequently Asked Questions
❓ What is Osteogenezis İmperfekta Tip 8?
Osteogenezis İmperfekta Tip 8; it is a rare genetic disease that shows the transition of autozomal resessive, where bones are excessively fragile. Type 8 is mainly caused by mutations in P3H1 gene, and bone density is significantly reduced due to the disorder in collagen synthesis. A large number of fractures, short size, white sklera and serious bone deformities are seen in patients during childbirth or early babyhood. Unlike other types, opalesans in the teeth (dentogenezis imperfekta) usually does not accompany.
❓ What is osteogenesis imperfecta type 8 in Turkish?
The Turkish equivalent of "osteogenesis imperfecta type 8" is Osteogenezis İmperfekta Tip 8.
❓ Which medical field is Osteogenezis İmperfekta Tip 8 related to?
This term belongs to the Diseases category.